A 5-year-old girl was admitted to our hospital due to fatigue and fever lasting for six months. She had systolic murmur in the mesocardiac and apex regions and hepatosplenomegaly. Laboratory evaluation revealed leukocyte and eosinophil counts of 176 and 144.32 x 10(9)/L, 3.4% blasts in bone marrow and monosomy 8. She developed pulmonary, cardiac, nervous system, ocular and bone involvement. Upo...

Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex chromosome, or monosomy X. TS is associated with abnormalities in lymphatic and skeletal development, in growth, and in gonadal function. Cardiac and renal malformations and a number of specific cognitive findings may also be encountered in the...

ras gene mutations are the most frequent molecular changes found in the preleukemic syndromes of adults and may play a role in initiating these diseases and in their progression to acute leukemia. However, little is known about the incidence or importance of these genetic mutations in childhood myeloproliferative states (MPS). The bone marrow (BM) monosomy 7 syndrome accounts for a large percen...

Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a patient with documented partial monos...

A three generation pedigree is described in which there are two carriers of translocation t(7;18). Two members of the family have trisomy 18p and a stillborn child had monosomy 18p and holoprosencephaly. Another stillborn child probably had holoprosencephaly; the karyotype was not analysed. Based on this observation, the occasional occurrence of holoprosencephaly in monosomy 18p (10% of previou...

BACKGROUND The treatment of uveal melanoma has seen a shift towards eye conserving treatments. Efforts have been made towards the identification of patients at high risk of metastatic disease with the use of prognostic fine needle biopsy, Monosomy 3 a risk factor for metastatic death thought to occur early in the development of uveal melanoma. CASE PRESENTATION We report a case in which an at...

OBJECTIVE To describe the clinical experience with noninvasive prenatal testing for fetal sex chromosomes using sequencing of maternal plasma cell-free DNA in a commercial laboratory. METHODS A noninvasive prenatal testing laboratory data set was examined for samples in which fetal sex chromosomes were reported. Available clinical outcomes were reviewed. RESULTS Of 18,161 samples with sex c...

OBJECTIVE To estimate the accuracy and potential clinical effect of using massively parallel sequencing of maternal plasma DNA to detect fetal aneuploidy in a cohort of pregnant women carrying fetuses with nuchal cystic hygroma. METHODS The MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) study database was queried to identify eligible patients carrying fetuses with ...

THE CONGENITAL chromosomal syndromes are those in which an implied, but unproved, causal relationship exists between microscopically detectable chromosomal aberrations and congenital malformations and biochemical abnormalities. Precise pathogenetic mechanisms giving rise to these congenital defects are unknown, but it is probable that they ultimately derive from the quantitative imbalance impos...